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Parkinson’s Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees

2020Journal article Open access
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dc.contributor.authorGago, Miguel Fernandes
dc.contributor.authorAzevedo, Olga
dc.contributor.authorGuimarães, Andreia
dc.contributor.authorTeresa Vide, Ana
dc.contributor.authorLamas, Nuno J.
dc.contributor.authorOliveira, Tiago Gil
dc.contributor.authorGaspar, Paulo
dc.contributor.authorBicho, Estela
dc.contributor.authorMiltenberger-Miltenyi, Gabriel
dc.contributor.authorFerreira, Joaquim
dc.contributor.authorSousa, Nuno
dc.date.accessioned2022-03-21T12:24:06Z
dc.date.available2022-03-21T12:24:06Z
dc.date.issued2020
dc.description.abstractBackground: Sporadic Parkinson's disease (PD) patients have lower α-galactosidase A (α-GAL A) enzymatic activity and Fabry disease (FD) patients potentially carry an increased risk of PD. Objective: Determination of PD prevalence in FD and clinical, biochemical and vascular neuroimaging description of FD pedigrees with concomitant PD. Methods: Clinical screening for PD in 229 FD patients belonging to 31 families, harbouring GLA gene mutation p.F113L, and subsequent pedigree analysis. Gender-stratified comparison of FD+/PD+ patients with their family members with FD but without PD (FD+/PD-) regarding Mainz scores, plasma & leukocytes α-GAL A enzymatic activity, urinary Gb3 and plasma Lyso-Gb3, vascular brain neuroimaging. Results: Prevalence of PD in FD was 1.3% (3/229) (3% in patients aged ≥50 years). Three FD patients, one female (73 years old) (P1) and two males (60 and 65 years old) (P2 and P3), three different pedigrees, presented akinetic-rigid PD, with weak response to levodopa (16% - 36%), and dopaminergic deficiency on 18F-DOPA PET. No pathogenic mutations were found in a PD gene panel. FD+/PD+ patients had worse clinical severity of FD (above upper 75% IQR in Mainz scores), and cortico-subcortical white matter/small vessel lesions. P3 patient was under enzyme therapy, started 1 year before PD diagnosis. P2-P3 patients had higher leucocyte α-GAL A activity (2,2-3 vs.1,0 (median)(nmol/h/mg)). Conclusion: We have shown a high prevalence of PD in a late-onset phenotype of FD, presenting high cerebrovascular burden and weak response to levodopa. Further studies will untangle how much of this PD phenotype is due to Gb3 deposition versus cerebrovascular lesions in the nigro-striatal network.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationGago MF, Azevedo O, Guimarães A, et al. Parkinson's Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees. J Parkinsons Dis. 2020;10(1):141-152. doi:10.3233/JPD-191704pt_PT
dc.identifier.doi10.3233/JPD-191704pt_PT
dc.identifier.issn1877-7171
dc.identifier.issn1877-718X
dc.identifier.urihttp://hdl.handle.net/10400.16/2667
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherIOS Presspt_PT
dc.relation.publisherversionhttps://content.iospress.com/articles/journal-of-parkinsons-disease/jpd191704pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectFabry diseasept_PT
dc.subjectGLApt_PT
dc.subjectGb3pt_PT
dc.subjectParkinson’s diseasept_PT
dc.subjectbrain magnetic resonance imagingpt_PT
dc.subjectα-galactosidase Apt_PT
dc.titleParkinson’s Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigreespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceNetherlandspt_PT
oaire.citation.endPage152pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage141pt_PT
oaire.citation.titleJournal of Parkinson's Diseasept_PT
oaire.citation.volume10pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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